Maria Kirchhoff

Summary

Affiliation: Copenhagen University Hospital
Country: Denmark

Publications

  1. ncbi A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:256-63. 2007
  2. ncbi Flow cytometric DNA index, G-band karyotyping, and comparative genomic hybridization in detection of high hyperdiploidy in childhood acute lymphoblastic leukemia
    Ulrikka Nygaard
    Department of Pediatrics, The University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    J Pediatr Hematol Oncol 28:134-40. 2006
  3. ncbi MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    Maria Kirchhoff
    Chromosome Laboratory, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:33-42. 2007
  4. ncbi Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Med Genet 50:243-55. 2007
  5. ncbi Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:2180-7. 2006
  6. ncbi Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen Ø, Denmark
    Clin Dysmorphol 16:109-12. 2007
  7. ncbi Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:644-8. 2006
  8. ncbi Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
    Morten Dunø
    Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Hum Genet 115:459-67. 2004
  9. ncbi Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Electrophoresis 26:4327-32. 2005
  10. ncbi Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Prenat Diagn 28:1119-25. 2008

Detail Information

Publications23

  1. ncbi A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:256-63. 2007
    ..Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication...
  2. ncbi Flow cytometric DNA index, G-band karyotyping, and comparative genomic hybridization in detection of high hyperdiploidy in childhood acute lymphoblastic leukemia
    Ulrikka Nygaard
    Department of Pediatrics, The University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    J Pediatr Hematol Oncol 28:134-40. 2006
    ..In addition, FCM detects patients with high hyperdiploid subclones, not detected by either GBK or HR-CGH, and the challenge remains to determine the prognosis of patients with such high hyperdiploid subclones...
  3. ncbi MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    Maria Kirchhoff
    Chromosome Laboratory, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Med Genet 50:33-42. 2007
    ..MRS-MLPA combined with Subtelomeric MLPA represents an attractive first test in a clinical algorithm for mental retardation...
  4. ncbi Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Med Genet 50:243-55. 2007
    ..These cases illustrate the need for careful assessment of the extended family in order to interpret the phenotypic consequences of abnormalities identified using array-CGH...
  5. ncbi Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:2180-7. 2006
    ....
  6. ncbi Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen Ø, Denmark
    Clin Dysmorphol 16:109-12. 2007
    ..We hypothesize that haploinsufficiency of WNT2B (wingless-type MMTV integration site family, member 2B) and NTNG1 (Netrin G1) contributed to the patient's phenotype...
  7. ncbi Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 140:644-8. 2006
  8. ncbi Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
    Morten Dunø
    Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Hum Genet 115:459-67. 2004
    ..The described copy number scanning approach is largely independent of the genomic locus and may be a valuable tool for characterising a large spectrum of deletions...
  9. ncbi Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Electrophoresis 26:4327-32. 2005
    ..Sample quality was automatically assessed. Control probes were not required. Having used the software and methods for two years, we conclude that a reliable, objective, and fast workflow is obtained...
  10. ncbi Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Prenat Diagn 28:1119-25. 2008
    ..Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported...
  11. doi A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
    Ann Britt Kiholm Lund
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Eur J Med Genet 51:520-6. 2008
    ..To our knowledge this is the first report of a patient with a 15q24 microduplication...
  12. doi Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities
    Hanne Dahlgaard Hove
    Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Clin Dysmorphol 17:121-2. 2008
  13. doi Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
    Maria Kirchhoff
    Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 149:894-905. 2009
    ..In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years...
  14. ncbi Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH
    Maria Kirchhoff
    Department of Clinical Genetics, 4052 Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Am J Med Genet A 127:111-7. 2004
    ..It is likely that the use of the technique in this application will reinforce the effort of defining new syndromes...
  15. ncbi Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, DK 2100 Copenhagen Ø, Denmark
    Eur J Hum Genet 13:171-5. 2005
    ..In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics...
  16. doi Heart defects and other features of the 22q11 distal deletion syndrome
    Christina R Fagerberg
    Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
    Eur J Med Genet 56:98-107. 2013
    ..Very distal deletions including region LCR22-6 to LCR22-7 encompassing the SMARCB1-gene are associated with an increased risk of malignant rhabdoid tumors...
  17. doi Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions
    Karin Wadt
    Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark
    Prenat Diagn 32:1212-7. 2012
    ..We review published cases of <5 Mb terminal 6q deletions. © 2012 John Wiley & Sons, Ltd...
  18. ncbi High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia
    Tim D Kristensen
    Department of Pediatrics, The University Hospital, Rigshospitalet, Copenhagen, Denmark
    Eur J Haematol 70:363-72. 2003
    ..Cytogenetic aberrations are of prognostic significance in childhood acute lymphoblastic leukaemias and a high detection rate could improve the biological understanding and classification of these diseases...
  19. ncbi Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences
    John C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
    Am J Med Genet A 143:615-8. 2007
  20. ncbi Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    Reinhard Ullmann
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 28:674-82. 2007
    ..Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR...
  21. ncbi Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification
    Maria Kirchhoff
    Am J Med Genet A 139:231-3. 2005
  22. ncbi Polydactyly in a boy with Smith-Magenis syndrome
    Lisbeth Mariannejensen
    Pediatric Department, Herning Sygehus, Herning, Denmark
    Clin Dysmorphol 14:189-90. 2005
    ..We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know...
  23. ncbi [Chromosome aberrations in mentally retarded and dysmorphic patients with normal karyotypes]
    Maria Kirchhoff
    H S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, København
    Ugeskr Laeger 166:4482-5. 2004